Allele Registry

Canonical Allele Identifier: PA319965

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000195602

RCV000233352

RCV002345705

ClinVar Variation:

213338

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Val1768Ala	CA319964 NM_001999.4:c.5303T>C